ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 1
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HGVS dbSNP
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864

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